Soumya Swaminathan, MD; Vincente Gi...

Soumya Swaminathan, MD; Vincente Gilsanz, MD; James Atkinson, MD; and Thomas G piercings M.D., F.C.C.P.

A five-year-old girl had congenital central hypoventilation syndrome and mediastinal and adrenal tumors. The mediastinal mass was contemplation to be present, retrospectively, for at least four years prior to surgery Pathology of the excised tumors revealed benign ganglioneuromas. This is the first case reported of an association between CCH and multiple ganglioneuromas. This moves that CCHS, like neural device tumors, may result from maldevelopment of the embryonic neural crest

Congenital central hypoventilation syndrome (CCHS) is a rare disorder involving abnormal neurologic restrain of ventilation. Diminished output from the central respiratory pattern generator to respiratory muscles issues in hypoventilation, hypoxemia, hypercarbia, and acidosis. Other congenital anomalies that have been described in association with CCH include neuroblastoma,[1,2] Hirsch-sprung's disease,[1,3,4] ganglioneuroblastoma,[2] and abnormalities in the bridle of heart rate.[3] It has been postulated that all these abnormalities may be related to abnormal disclosure or abnormal migration of neural comb cells in fetal life.[1] We report a five-year-old girl with CCH whose multiple ganglioneuromas were discovered at the age of 45 years.

CASE REPORT

The patient was the proceeds of a full term pregnancy and normal delivery with Apgar score 99; she weighed 7 lb 9 oz She became dusky sum of two units hours after birth and continued to have several apneic fits thereafter. She was admitted to CHLA at the age of common month. She was diagnosed as having CCH and received a tracheostomy and mechanical assisted ventilation while asleep. Her initial EEG cranial ultrasound, and CT scan were normal. Cardiac reverberation done at the age of four month revealed mild right ventricular dilatation and hypertrophy which later resolv The EMG and brace conduction studies were normal. She had a polysomnogram at the age of four month which showed hypoventilation during doze (PET[CO.sub.2] 55 to 60 mm Hg and oxygen saturation 78 to 83 percent) without central or obstructive apneas. She was discharged family circle at the age of seven month upon an LP-4 ventilator and has continued to do well since then. In October 1987 at the age of 45 years, she was seen at the Pulmonary Clinic for an episode of pneumonia. A chest x-ray film revealed a left upper thoracic mediastinal mass with abnormal splitting of ribs (Fig 1) forward close examination of her previous chest x-ray films, the mass was noted as early as eight month of age. A CT scan of the chest revealed a left paravertebral mass (Fig 2) A CT scan of the cranium and a myelogram done at the same time were normal. An abdominal CT scan revealed a 5 x 5 cm right adrenal mass. Routine hematologic studies, bone marrow examination, urinary catecholamines, and a bone scan were all within normal limits.

In November 1987 an exploratory laparotomy and excision of the right adrenal mass was performed. Histopathology of the tumor revealed multiple peacefulnesss of mature ganglion cells scattered quite through a fibrillary and neuromatous background, suggestive of a ganglioneuroma. In January 1988 she underwent a thoracotomy and resection of the left paravertebral mass which was 5 x 5 cm and lengthen outed from T1 to T4. one residual tumor had to be left in the T2 intervertebral space. Histopathologic findings of this tumor also revealed a ganglioneuroma. There has been no resort or regrowth of the tumors since their removal.

DISCUSSION

The CCH synonymous with Ondine's annoy is a rare disorder of respiratory repress In the classic form, affected children have adequate minute ventilation during wakefulness unless develop progressive hypoxia and hypercapnia during quiet rest The primary derangement is believed to conclusion from failure of central chemoreceptors located in the ventrolateral area of the medulla.

The CCH syndrome has been associated with Hirsch-sprung's disease,[1,3,4,5] neuroblastoma,[1,2] ganglioneuroblastoma,[2] and lack of heart rate variability,[3] and also with hypothalamic dysfunction.[6] This prompts a primary defect of the pedicel serotonergic nerve cell[3] or a neural plume migrational abnormality.[1] Bolande[7] first coined the spell "neurocristopathy" to describe lesions resulting from aberrations in the early migration, growing and differentation of neural tuft cells. Neuroblasts from the neural armorial bearings migrate along each side of the developing spinal cord to give rise to the sympathetic ganglia. They also migrate ventrally to form the visceral autonomic ganglia, the chromaffin body the Schwann cells investing all peripheral vigors the leptomeninges and some of the central nervous a whole may also arise from the neural top Neuroblastoma, pheochromocytoma, ganglioneuroma, carcinoid tumors and Hirschsprung's disease may be related to the maldevelopment of these neural device cells.[8]